©2018 by Acrodysostosis Support and Research  

 

Who we are

We are a group of people from across the world brought together by the shared goal of learning more about the rare genetic disease, acrodysostosis.

 

We are made up of the people who are living with the disease, their parents, family members, and friends. The group also includes scientists and doctors who are interested in researching the disease to learn more about it.

Medical team

Prof Agnes Linglart

Prof Linglart is a Paediatric Endocrinologist and Professor of Paediatrics. She is the Head of the French National Center of Reference for rare disorders of calcium and phosphorus metabolism and coordinates the network of physicians and molecular biologists working on these disorders. Her clinical interests are in Paediatric Endocrinology and comprise Growth, Puberty, Adrenals, Pituitary and Bone diseases. Her research focuses on rare disorders of the mineral metabolism.

Dr Alessia Usardi

Dr Usardi is an Italian scientist who obtained her PhD at King’s College London in Neuroscience in 2010 and moved to France to continue fundamental research in Neurodevelopment. She later decided to move towards the field of rare disorders and join Prof Linglart’s team in the Bicêtre hospital as a project manager. Along with Prof Linglart, she has implemented and runs local projects like the Platform of Expertise for Rare Disorders. She has also participated in European projects, such as the first international consensus statement for diagnosis and management of pseudohypoparathyroidism and related disorders.

Dr Guiomar Perez de Nanclares

Dr Perez De Nanclares Leal is the principal investigator of the Imprinting Disorders group at BioAraba Institute of Health, OSI Araba, Vitoria-Gasteiz, Spain. She is recognized as an international expert in molecular aspects of PHP and PHP-related disorders, including acrodysostosis. Her research focuses on imprinting disorders and their genetic and epigenetic characterization. She has published over 100 articles, including molecular characterisation of imprinted disorders and their differential diagnoses. Read more about Guiomar on her professional profile.

Dr Giovanna Mantovani

Dr Mantovani obtained her M.D. at the University of Milan in 1998. She then achieved the Specialty in Endocrinology and Metabolism in 2003 and a PhD in Molecular Medicine in 2007 (University of Milan). She is now an Associate Professor of Endocrinology and Head of the "Referral Center for the Study and Care of Pituitary Tumors" at Fondazione IRCCS Ca’ Granda Policlinico in Milan. Since 2000, she has made important contributions to the characterization of Gsa expression and imprinting in human endocrine tissues. She is a member of the Euro-PHP consortium for (epi)genetic diagnosis of Pseudohypoparathyroidism.

Dr Ashley Shoemaker

Dr. Shoemaker's research focuses on the pathophysiology and treatment of genetic obesity syndromes with a particular focus on the disorder pseudohypopararthyroidism (PHP). Dr. Shoemaker has found that children with PHP have reduced energy expenditure, leading to early weight gain and glucose intolerance. She is continuing her work with a clinical trial of theophylline as a treatment for PHP. Other current studies include a registry for children with a history of obesity onset before six years old and a drug trial for patients with obesity due to hypothalamic brain tumors

Dr Moira Cheung

Having trained as a paediatric endocrinologist, Dr Cheung spent two years in Montreal, Canada undertaking clinical research and managing children with rare metabolic bone diseases. Her PhD at Imperial College, London examined oestrogen and thyroid hormone actions on the skeleton in animal models. Dr Cheung is the clinical lead for paediatric metabolic bone disease at Evelina Children's Hospital, Guys and St Thomas' Trust. She provides specialist patient care and access to clinical trials in rare skeletal disorders.

 

The families

 

Nina Knight and Phil Woods

Nina and Phil’s daughter Lily was diagnosed with acrodysostosis type 2 when Lily was two years old. After learning that there was very little information about the rare disease, Nina and Phil took to the internet to find others parents and people living with acrodysostosis, and discover the Acrodysostosis Support Facebook group. From there, they became strong advocates for research into the disease, fostering connections with medical experts and geneticists. They travelled to Paris for a medical conference on rare genetic diseases, where they asserted the needs of people living with acrodysostosis through research into the disease. When they were assured that more patient information would lead to better research and medical trials in the future, Nina made it her mission to reach as many people living with acrodysostosis and their families to collect this information; and Acrodysostosis Support and Research was born!

Kimberley Stanley

Kimberley is the mother of Francesca May, who was diagnosed with acrodysostosis type 2 in August 2018. Since her daughter’s diagnosis and joining the Acrodysostosis Support and Research community, Kimberley has been extremely supportive of furthering the cause and highlighting the need for more research about the disease. Francesca’s story recently appeared in a news segment for Notts TV, and Kimberley and her family have raised lots of money for the genetic research project Jeans For Genes.

Michael and Kymie Gleeson

Michael and Kymie Gleeson live in the beachside community of Cronulla in Sydney Australia. They have a daughter Francesca (Frankie) who was diagnosed with AcroD type 2 in 2015 at 8 months of age. Finding limited medical information and no real medical support on the condition in Australia to help their beautiful little Frankie, they started the Acrodysostosis Support Group on Facebook in 2015. Since starting the page, they have connected over 50 families with a child or children and adult suffers with the condition around the world. Both Kymie & Michael are dedicated fund raisers for the Children’s Medical Research Institute of Australia and raise thousands of dollars for genetic research every year through Jeans For Genes.

Jordan

Jordan is a young woman based in the UK, living with acrodysostosis type 1 with related pseudohypoparathyroidism. She was diagnosed in November 2017 after lots of genetic testing, as she was originally thought to have albright's hereditary osteodystrophy. Jordan is a rare disease advocate and thanks in part to her own unique experience, she aims to raise awareness and help others who are going through anything similar. Jordan uses her social media savvy to run the Acrodysostosis Support and Research Instagram page.

Karen Dolman

Proud mother of a very strong and determined two year old, Henry, who has Acrodysostosis Type 1. Since he was born, Karen has focused on caring for Henry and establishing an outstanding medical team to diagnosis, treat, and support his significant and complex medical and developmental needs. Karen and her family moved to Boston, MA to be near Boston Children’s Hospital, a top pediatric hospital that specializes in caring for patients with rare diseases and complex medical issues.  Her family also travels to Nemours/Alfred I. DuPont Hospital for Children in Wilmington, DE, where world-renowned skeletal dysplasia experts provide valuable guidance on Henry’s overall care.

 

Prior to having children, Karen spent 10 years working in the financial industry for J.P. Morgan Asset Management, CRT Capital Group, UBS Global Asset Management and Banc of America Securities, where she specialized in portfolio analytics, investment research and system implementations. Karen graduated from the University of Wisconsin – Madison in 2006 with Bachelor of Science degrees in English and Psychology and completed postgraduate coursework in accounting and finance.

 

Karen is passionate about advocating for children with rare diseases and special needs, promoting genetic testing and research and implementing changes in clinics and hospitals to improve the medical experience for patients and families. Karen is grateful to be a part of the Acrodysostosis community and is excited about the opportunity to participate in research and to raise awareness and support for this rare condition.